Flexion contracture, and Abdominal pain

Diseases related with Flexion contracture and Abdominal pain

In the following list you will find some of the most common rare diseases related to Flexion contracture and Abdominal pain that can help you solving undiagnosed cases.

Top matches:

Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2K Is also known as muscular dystrophy, limb-girdle, type 2k|muscular dystrophy, limb-girdle, autosomal recessive 11|lgmd2k|limb-girdle muscular dystrophy-intellectual disability syndrome|lgmdr11

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2K

Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Brachydactyly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PARASTREMMATIC DWARFISM

Yao syndrome is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants (Yao and Shen, 2017).

Related symptoms:

  • Pain
  • Fever
  • Diarrhea
  • Abdominal pain
  • Weight loss


SOURCES: OMIM MENDELIAN

More info about YAO SYNDROME; YAOS

Other less relevant matches:

Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14. Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village.Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. In addition, both brothers developed early-onset hepatocellular carcinoma, at ages 16 and 14 years, respectively. The older brother died at age 18 from complications of acute fulminant hepatic failure. Analysis of patient tumor biopsies showed strong focal accumulations of cancer biomarkers as well as a high proliferative index compared to healthy liver or to cells from idiopathic hepatocellular carcinoma.

PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME Is also known as ruijs-aalfs syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME

Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).

MUCKLE-WELLS SYNDROME Is also known as neutrophilic urticaria

Related symptoms:

  • Short stature
  • Anemia
  • Hepatomegaly
  • Fever
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about MUCKLE-WELLS SYNDROME

Low match LYNCH SYNDROME

LYNCH SYNDROME Is also known as coca2|colon cancer, familial nonpolyposis, type 2|fcc2

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscular hypotonia
  • Flexion contracture
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYNCH SYNDROME

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome|waardenburg-shah syndrome, neurologic variant|pcwh|ws4 plus

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

Hyperphosphatasia with mental retardation syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by Ilkovski et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6 Is also known as gpibd12|glycosylphosphatidylinositol biosynthesis defect 12

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6

Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010).

AARSKOG-SCOTT SYNDROME; AAS Is also known as aarskog syndrome, x-linked|faciodigitogenital syndrome|fgdy|faciogenital dysplasia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about AARSKOG-SCOTT SYNDROME; AAS

Top 5 symptoms//phenotypes associated to Flexion contracture and Abdominal pain

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Short neck Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Flexion contracture and Abdominal pain. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hepatomegaly Diarrhea Vomiting Anteverted nares Prominent nasal bridge Arthritis Clinodactyly Growth delay Weight loss Constipation Fever Dilatation Myalgia Scoliosis Hypertension Microcephaly Cryptorchidism Global developmental delay

Rare Symptoms - Less than 30% cases

Intestinal obstruction Single transverse palmar crease Bulbous nose Hyperactivity Peripheral neuropathy Carcinoma Wide nasal bridge Deeply set eye Pes planus Failure to thrive Pectus excavatum Skeletal muscle atrophy Micrognathia Neoplasm Portal hypertension Episodic abdominal pain Uveitis Elevated erythrocyte sedimentation rate Skin rash Camptodactyly Arthralgia Cataract Elbow flexion contracture Aganglionic megacolon Microcolon Polyhydramnios Umbilical hernia Increased intracranial pressure Attention deficit hyperactivity disorder Abnormal pyramidal sign Developmental regression Depressivity Behavioral abnormality Round face Muscular hypotonia Broad foot Cleft palate Volvulus Abnormality of the genital system Pes cavus Splenomegaly Generalized hypotonia Anemia Strabismus Hepatocellular carcinoma Premature graying of hair Intestinal pseudo-obstruction Delayed puberty Inguinal hernia Motor delay Alopecia Ventricular hypertrophy Malabsorption Nausea and vomiting Kyphoscoliosis Delayed speech and language development Neonatal hypotonia Myopathy Elevated serum creatine phosphokinase Kyphosis Malnutrition Thoracic kyphosis Brachydactyly Large earlobe Spasmus nutans Long-segment aganglionic megacolon Widow's peak Dysphagia Short 5th finger Dysmyelinating leukodystrophy Abnormality of cardiovascular system morphology Absent brainstem auditory responses Pneumonia Broad philtrum Hip contracture Genu recurvatum Shawl scrotum Lymphedema Radial deviation of finger Mild short stature Interstitial pulmonary abnormality Vesicoureteral reflux Broad palm Abdominal distention Macrocytic anemia Arachnodactyly Hypoplasia of the odontoid process Narrow chest Ophthalmoplegia Broad forehead Abnormality of the liver Joint stiffness Low-set, posteriorly rotated ears Myelin outfoldings Hydronephrosis Hypoplasia of the semicircular canal Decreased lacrimation Neonatal asphyxia White hair Leukodystrophy Abnormal autonomic nervous system physiology Spastic paraparesis Torticollis Hypopigmented skin patches Anosmia CNS hypomyelination Decreased nerve conduction velocity Curved linear dimple below the lower lip Congenital nystagmus Hypopigmentation of hair Abnormal eyebrow morphology Blue irides Heterochromia iridis Demyelinating peripheral neuropathy Hypoplasia of the cochlea Osteochondritis Dissecans Meconium ileus Hyperextensibility of the finger joints Peripheral hypomyelination Spotty hyperpigmentation Overgrowth Cerebral dysmyelination Frontoparietal polymicrogyria White forelock White eyebrow White eyelashes Alacrima Ileus Prominent umbilicus Increased upper to lower segment ratio Intestinal malrotation Pancreatitis Interphalangeal joint contracture of finger Muscular hypotonia of the trunk Respiratory tract infection EEG with multifocal slow activity Hypertelorism Ptosis Downslanted palpebral fissures Ventricular septal defect Osteopenia Echogenic fetal bowel Intellectual disability, mild Short nose Syndactyly Hernia Obesity Depressed nasal bridge Wide mouth Congenital cataract Abnormal heart morphology Knee flexion contracture 2-3 toe syndactyly Chronic lung disease Thickened helices Enterocolitis Elevated alkaline phosphatase Disproportionate short-limb short stature Aspiration Shortening of all distal phalanges of the fingers Cerebral visual impairment Abnormal lung morphology Narrow forehead Prominent nasal tip Limb undergrowth Hip dysplasia Poor speech Feeding difficulties High palate Recurrent urinary tract infections Hydroureter Peritonitis Short foot Achalasia Chronic constipation Hyperparathyroidism Disproportionate tall stature Hypodontia Short palm Anonychia Hypoalbuminemia External ophthalmoplegia Long palpebral fissure Horseshoe kidney Hypoplasia of the maxilla Generalized-onset seizure Aplasia/Hypoplasia of the abdominal wall musculature Abdominal situs inversus Joint laxity Neuroma Hypermetropia Megaduodenum Hypoperistalsis Gastrointestinal obstruction Pulmonic stenosis Cleft upper lip Barrett esophagus Urinary retention Cirrhosis Urethral obstruction Joint hypermobility Megacystis Prune belly Polymicrogyria Pollakisuria Hypohidrosis Benign neoplasm of the central nervous system Spastic tetraplegia Stiff neck Inflammatory abnormality of the skin Asthma Chest pain Papule Autoimmunity Intestinal polyp Peripheral edema Mucopolysacchariduria Blurred vision Protein-losing enteropathy Thoracolumbar scoliosis Scleroderma Rheumatoid arthritis Cachexia Abnormal intestine morphology Chronic diarrhea Nephrolithiasis Keratoconjunctivitis sicca Postural instability Decreased body weight Optic atrophy Fulminant hepatic failure Thoracic kyphoscoliosis Down-sloping shoulders Posterior subcapsular cataract Subcapsular cataract Lipodystrophy Triangular face Pericarditis Hepatic failure Delayed skeletal maturation Frontal bossing Pleuritis Oral ulcer Xerostomia Episodic fever Bowing of the long bones Nausea Abnormality of metabolism/homeostasis Muscular dystrophy Congenital muscular dystrophy Gowers sign Limb-girdle muscular dystrophy Easy fatigability Left ventricular hypertrophy Lumbar hyperlordosis Waddling gait Cough Increased variability in muscle fiber diameter Autistic behavior Proximal muscle weakness Difficulty walking Dyspnea Cardiomyopathy Respiratory distress Muscle weakness Skeletal muscle hypertrophy Calf muscle hypertrophy Genu valgum Impaired visuospatial constructive cognition Platyspondyly Nail dystrophy Hypothyroidism Severe short stature Edema Thigh hypertrophy Triceps weakness Hypoglycosylation of alpha-dystroglycan Generalized amyotrophy Abnormal glycosylation Type 1 muscle fiber predominance Limb-girdle muscle weakness Centrally nucleated skeletal muscle fibers Spinal rigidity Hypokinesia Difficulty climbing stairs Macrocephaly Glaucoma Peripheral demyelination Neoplasm of the skeletal system Nystagmus Ataxia Hearing impairment Urinary tract neoplasm Cardiac diverticulum Neoplasm of the rectum Abnormality of creatine metabolism Neoplasm of the thyroid gland Spasticity Agnosia Glioblastoma multiforme Pancreatic adenocarcinoma Leiomyosarcoma Amaurosis fugax Dysgraphia Prostate cancer Sensorineural hearing impairment Myopia Pituitary adenoma Distal muscle weakness Underdeveloped nasal alae Tetraplegia Coma Hypopigmentation of the skin Distal sensory impairment Distal amyotrophy Arthrogryposis multiplex congenita Telecanthus Intellectual disability, severe Abnormality of the nervous system Hepatosplenomegaly Hypogonadism Myoclonus Hyporeflexia Areflexia Arrhythmia Intestinal polyposis Neoplasm of the pancreas Camptodactyly of finger Abnormality of the voice Renal amyloidosis Hernia of the abdominal wall Episcleritis Recurrent aphthous stomatitis Abnormality of the nose Progressive sensorineural hearing impairment Restrictive ventilatory defect Urticaria Dysarthria Abnormal palate morphology Cranial nerve paralysis Conjunctivitis Vasculitis Nephrotic syndrome Nephropathy Ichthyosis Visual impairment Gait disturbance Ovarian neoplasm Memory impairment Neuroblastoma Colon cancer Visual field defect Basal cell carcinoma Hemiplegia/hemiparesis Breast carcinoma Hallucinations Gastrointestinal hemorrhage Fatigue Migraine Dyskinesia Paresthesia Neurological speech impairment Irritability Anxiety Hypertonia Cervical spine hypermobility


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